Varaico: Literature-Extracted Genetic Variants

EIF2A

80 papers

RefSeq Summary

This gene encodes a eukaryotic translation initiation factor that catalyzes the formation of puromycin-sensitive 80 S preinitiation complexes and the poly(U)-directed synthesis of polyphenylalanine at...

Pfam Domains

eIF2Aaa 216–411UCSCEukaryotic translation initiation factor eIF2A

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2A

HGNC Alias Symbol

EIF-2A

Papers

RefSeq ID

Protein change

DNA change

1–12 of 60 variants

4 papers

NM_032025.5

p.M1V

c.1A>G

3 papers

NM_032025.5

p.T97S

c.289A>T

3 papers

NM_032025.5

p.T97S

c.290C>G

2 papers

NM_032025.5

p.L111F

c.331C>T

1 paper

NM_032025.5

p.T5K

c.14C>A

1 paper

NM_032025.5

p.Y17fs

c.49_50fs

1 paper

NM_032025.5

p.Y17delFs

c.50_51delAC

1 paper

NM_032025.5

p.L50_F51del2

c.148_152del6

1 paper

NM_032025.5

p.T92T

c.276G>A

1 paper

NM_032025.5

p.L111V

c.331C>G

1 paper

NM_032025.5

p.S122C

c.365C>G

1 paper

NM_032025.5

p.Q125H

c.375G>T